Disorders of Childhood Growth

Abstract Children often present to the pediatric endocrinologist because their height or growth pattern raises concerns about a possible underlying health problem, about their psychosocial function and adjustment, and/or about the height they are headed to become as an adult. Many children are short or tall because they inherited a set of polymorphisms that modulate linear growth. Such polygenic short or tall stature is generally benign. However, some children are short or tall because of a single gene abnormality, some of which have important health implications, such as a propensity to cardiovascular malformations or to malignancies. Other children are short because of a subtle systemic acquired disease, such as inflammatory bowel disease, autoimmune thyroiditis, or a central nervous system tumor causing pituitary dysfunction. Thus the healthcare provider faces the challenge of sorting out the few children with important underlying pathology from the many children with a benign condition. Short and tall stature results from decreased or increased growth plate chondrogenesis, respectively. Therefore the differential diagnoses of these conditions include genetic and environmental factors that modulate growth plate chondrogenesis through endocrine signals, inflammatory cytokines, nutritional status, paracrine/autocrine signals, extracellular matrix effects, or intracellular systems. This chapter reviews these causes, the clinical approach to identifying the etiology in an individual child, and the available therapeutic options.